A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism

Figure 3

Conformational prediction of novel TPO mutation. (a) Human TPO structure diagram. Figures B and C are enlarged versions. (b) The wild type of Cys655 (WT). (c) The mutant type of Phe655 (Mut). These figures indicate that the substitution of p.Cys655Phe abolishes disulfide bonds between cysteines at positions 598 and 655. The yellow part is sulfur, the red part is nitrogen, the blue part is oxygen, and the gray part is carbon.

(a)

(b)

(c)